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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBC1D20 Gene

protein-coding   GIFtS: 48
GCID: GC20M000416

TBC1 Domain Family, Member 20

(Previous name: chromosome 20 open reading frame 140)
(Previous symbol: C20orf140)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 201 2
C20orf1401 2 3 5
Chromosome 20 Open Reading Frame 1401
TBC1 Domain Family Member 202

External Ids:    HGNC: 161331   Entrez Gene: 1286372   Ensembl: ENSG000001258757   OMIM: 6116635   UniProtKB: Q96BZ93   

Export aliases for TBC1D20 gene to outside databases

Previous GC identifer: GC20M000367


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TBC1D20 Gene: 
TBC1D20 (TBC1 domain family, member 20) is a protein-coding gene. Diseases associated with TBC1D20 include hepatitis c, and hepatitis. GO annotations related to this gene include Rab GTPase activator activity.

UniProtKB/Swiss-Prot: TBC20_HUMAN, Q96BZ9
Function: May act as a GTPase-activating protein for Rab family protein(s)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D20 gene promoter:
         STAT5B   Sox5   GATA-3   AML1a   C/EBPalpha   POU2F1   POU2F1a   Sox9   STAT3   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D20 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBC1D20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D20


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

TBC1D20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D20 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M000416:  view genomic region     (about GC identifiers)

Start:
416,124 bp from pter      End:
443,197 bp from pter
Size:
27,074 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TBC20_HUMAN, Q96BZ9 (See protein sequence)
Recommended Name: TBC1 domain family member 20  
Size: 403 amino acids; 45855 Da
Subunit: Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
2 PDB 3D structures from and Proteopedia for TBC1D20:
4HL4 (3D)        4HLQ (3D)    
Secondary accessions: A8K6I3 Q5JWQ7 Q6ZSY8 Q96NE1 Q9BYM7 Q9H140
Alternative splicing: 3 isoforms:  Q96BZ9-1   Q96BZ9-2   Q96BZ9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D20: NX_Q96BZ9

Explore proteomics data for TBC1D20 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96BZ9

  • TBC1D20 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBC1D20 Protein Expression
    REFSEQ proteins: NP_653229.1  
    ENSEMBL proteins: 
     ENSP00000432280   ENSP00000346139  

    Human Recombinant Protein Products for TBC1D20: 
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    Cloud-Clone Corp. Proteins for TBC1D20 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0016021integral to membrane IEA--

    TBC1D20 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry Q96BZ9

    ProtoNet protein and cluster: Q96BZ9

    1 Blocks protein domain: IPB000195 RabGAP/TBC domain

    UniProtKB/Swiss-Prot: TBC20_HUMAN, Q96BZ9
    Similarity: Contains 1 Rab-GAP TBC domain


    TBC1D20 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBC20_HUMAN, Q96BZ9
    Function: May act as a GTPase-activating protein for Rab family protein(s)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
         
    TBC1D20 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidTBC1D20 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D20

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for TBC1D20 (Q96BZ93 ENSP000003461394) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LMLNQ96KR43I2D: score=3 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019048modulation by virus of host morphology or physiology IEA--
    GO:0032313regulation of Rab GTPase activity ----

    TBC1D20 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBC1D20 (TBC20)

    Search CenterWatch for drugs/clinical trials and news about TBC1D20 / TBC20

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBC1D20 gene: 
    NM_144628.2  

    Unigene Cluster for TBC1D20:

    TBC1 domain family, member 20
    Hs.590876  [show with all ESTs]
    Unigene Representative Sequence: BX647370
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461188 ENST00000461304 ENST00000354200(uc002wds.3 uc002wdt.3 uc002wdv.3)
    ENST00000494633
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/62 QIAGEN miScript miRNA Assays for microRNAs that regulate TBC1D20 (see all 62):
    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-15a hsa-miR-500a hsa-miR-3916 hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D20 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB449906.1 AF116909.1 AK055488.1 AK055573.1 AK092063.1 AK095110.1 AK291648.1 BC014648.1 
    BC047616.1 BX647370.1 

    14 DOTS entries:

    DT.101984765  DT.101984764  DT.100027958  DT.449727  DT.100650382  DT.95254074  DT.100001328  DT.100816828 
    DT.102830204  DT.75188690  DT.100816830  DT.407716  DT.407717  DT.95263804 

    24/226 AceView cDNA sequences (see all 226):

    CR622506 AI560940 BM699476 N74353 BQ650018 BI828007 BC047616 AI242835 
    BM918467 BQ643538 CR611379 BU838419 BM928614 BG392881 BX369519 AI363139 
    W77983 NM_144628 F07418 BC014983 CB960021 BM676962 BM354028 AI198639 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D20 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11
    SP1:                                            -                 -                             -           -                       -               
    SP2:                                            -           -     -                                                                                 
    SP3:                                                                                            -           -                                       
    SP4:                          -                 -                 -                                                                                 
    SP5:                                            -                                                                                                   


    ECgene alternative splicing isoforms for TBC1D20

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TBC1D20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACCAGGGT
    TBC1D20 Expression
    About this image


    See TBC1D20 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D20

    SOURCE GeneReport for Unigene cluster: Hs.590876
        SABiosciences Custom PCR Arrays for TBC1D20
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TBC1D20 gene from 8/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d201 , 5 TBC1 domain family, member 201, 5 89.3(n)1
    93.28(a)1
      2 (74.83 cM)5
    672311  NM_024196.31  NP_077158.11 
     1522938285 
    chicken
    (Gallus gallus)
    Aves TBC1D201 TBC1 domain family, member 20 80.42(n)
    90.48(a)
      771781  XM_001235014.1  XP_001235015.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D206
    --
    Uncharacterized protein
    86(a)
    60(a)
    1 ↔ 1
    possible ortholog
    GL343346.1(984473-1012852)
    1(259534767-259553389)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC526912 hypothetical protein MGC52691 79.14(n)    BC041214.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc638632 hypothetical protein MGC63863 74.09(n)   393372  BC054561.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG178831 CG17883 49.88(n)
    45.74(a)
      3355139  NM_001042983.1  NP_001036448.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-201 Protein TBC-20 49.65(n)
    40.21(a)
      175139  NM_064667.3  NP_497068.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GYP86
    GTPase-activating protein for yeast Rab family mem...
    15(a)
    1 ↔ 1
    VI(80419-81912)


    ENSEMBL Gene Tree for TBC1D20 (if available)
    TreeFam Gene Tree for TBC1D20 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/637 SNPs in TBC1D20 are shown (see all 637)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1830797271,2
    --415646(+) AAGAGC/TAGGCT 1 -- ds50010--------
    rs791169401,2
    --415691(+) AGAAGC/TGGCAC 1 -- ds50010--------
    rs1482960041,2
    --415696(+) CGGCAC/TATCAA 1 -- ds50010--------
    rs1870144151,2
    --415786(+) GACCCG/TCACCA 1 -- ds50010--------
    rs1917914741,2
    --415919(+) ACACCA/GAGCAA 1 -- ds50010--------
    rs1174726341,2
    F--415933(+) AGCAAT/CTCTGC 1 -- ds50011Minor allele frequency- C:0.01NA 120
    rs738949211,2
    C--415964(+) CCTCCA/GATTCA 1 -- ds50012Minor allele frequency- G:0.14WA 120
    rs61159741,2
    C,H--416015(+) ccacaG/Agttca 1 -- ds50014Minor allele frequency- A:0.00NS EA 420
    rs1469657361,2
    C--416034(+) CCCAC-/AAAGAC 1 -- ds50010--------
    rs1163432561,2
    F--416039(+) CAAGAC/GCGCCG 1 -- ds50011Minor allele frequency- G:0.02WA 118

    HapMap Linkage Disequilibrium report for TBC1D20 (416124 - 443197 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for TBC1D20:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1050414CNV Deletion17803354
    esv2535181CNV Deletion19546169
    esv2677224CNV Deletion23128226
    nsv458842CNV Loss19166990
    nsv469833CNV Gain16826518
    dgv4509n71CNV Gain21882294
    nsv912568CNV Gain21882294
    nsv9774CNV Gain18304495

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611663    OMIM disorders: --

    2 diseases for TBC1D20:    About MalaCards
    hepatitis c    hepatitis


    TBC1D20 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TBC1D20

    Export disorders for TBC1D20 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TBC1D20 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with TBC1D20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication. (PubMed id 17686842)1, 2 Sklan E.H.... Glenn J.S. (2007)
    2. TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication. (PubMed id 17901050)1, 3 Sklan E.H....Glenn J.S. (2007)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    6. Role for TBC1D20 and Rab1 in hepatitis C virus replica tion via interaction with lipid droplet-bound nonstructural protein 5A. (PubMed id 22491470)1 Nevo-Yassaf I....Sklan E.H. (2012)
    7. Human immunodeficiency virus type 1 envelope proteins traffic toward virion assembly sites via a TBC1D20/Rab1-regulated pathway. (PubMed id 22260459)1 Nachmias D....Bacharach E. (2012)
    8. Catalytic mechanism of a mammalian Rab^RabGAP complex in atomic detail. (PubMed id 23236136)1 Gavriljuk K....Gerwert K. (2012)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 128637 HGNC: 16133 AceView: C20orf140 Ensembl:ENSG00000125875 euGenes: HUgn128637
    ECgene: TBC1D20 H-InvDB: TBC1D20

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TBC1D20 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TBC1D20 gene:
    Search GeneIP for patents involving TBC1D20

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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